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Prevalence of Barth syndrome in adult left ventricular hypertrabeculation / noncompaction

Josef Finsterer1, Claudia Stollberger, Georg Blazek

  • 1Hospital Rudolfstiftung, Vienna, Austria. fifigs1@yahoo.de

Scandinavian Cardiovascular Journal : SCJ
|March 28, 2008
PubMed

Insights

Barth syndrome (BS) prevalence is low in adult left ventricular hypertrabeculation/noncompaction (LVHT) patients. Many LVHT patients have cardiomyopathy, but few show BS clinical features like leukopenia or myopathy.

Area of Science:

  • Cardiology
  • Genetics
  • Hematology

Background:

  • Barth syndrome (BS) is characterized by leukopenia, left ventricular hypertrabeculation/noncompaction (LVHT), cardiomyopathy, and myopathy.
  • Adult patients with LVHT are a key population for investigating BS prevalence.

Purpose of the Study:

  • To determine the prevalence of BS clinical characteristics in a large cohort of adult LVHT patients.
  • To assess the co-occurrence of leukopenia, cardiomyopathy, and myopathy in LVHT patients.

Main Methods:

  • Retrospective review of medical records for 86 adult LVHT patients diagnosed between 1995 and 2006.
  • Analysis of leukocyte and neutrophil granulocyte counts, and diagnosis of dilated cardiomyopathy (dCMP) and myopathy.

Main Results:

  • 58 of 86 patients had dilated cardiomyopathy (dCMP).
  • Only three patients had reduced leukocyte counts and two had reduced neutrophil counts; none had dCMP.
  • No patients presented with all four classical features of Barth syndrome.

Conclusions:

  • The prevalence of Barth syndrome (BS) appears low in adult LVHT patients.
  • Clinical findings alone may be insufficient for diagnosing BS in this population.
Abstract

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